ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.6602A>T (p.Gln2201Leu) (rs143107117)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725071 SCV000333774 uncertain significance not provided 2015-09-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000334652 SCV000711238 uncertain significance not specified 2017-09-22 criteria provided, single submitter clinical testing The p.Gln2201Leu variant in USH2A has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified in 7/111432 of Eu ropean chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.bro adinstitute.org/; dbSNP rs143107117). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic r ole. Computational prediction tools and conservation analysis suggest that the p .Gln2201Leu variant may not impact the protein, though this information is not p redictive enough to rule out pathogenicity. In summary, the clinical significanc e of the p.Gln2201Leu variant is uncertain.

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